Linked Data
ClinVar Variation Id:
500531
dbSNP Id:
rs774509104
ExAC:
2:179417456 A / G
gnomAD v2:
2-179417456-A-G
gnomAD v4:
2-178552729-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.178552729A>G , CM000664.2:g.178552729A>G | GRCh38 |
| NC_000002.11:g.179417456A>G , CM000664.1:g.179417456A>G | GRCh37 |
| NC_000002.10:g.179125702A>G | NCBI36 |
| NG_011618.3:g.283074T>C , LRG_391:g.283074T>C | |
| NG_051363.1:g.34903A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342992.11:c.82467T>C (TTN) | ENSP00000343764.6:p.Asp27489= | |
| ENST00000342175.11:c.63552T>C (TTN) | ENSP00000340554.6:p.Asp21184= | |
| ENST00000359218.10:c.63351T>C (TTN) | ENSP00000352154.5:p.Asp21117= | |
| ENST00000342175.10:c.63552T>C (TTN) | ENSP00000340554.6:p.Asp21184= | |
| ENST00000342992.10:c.82467T>C (TTN) | ENSP00000343764.6:p.Asp27489= | |
| ENST00000359218.9:c.63351T>C (TTN) | ENSP00000352154.5:p.Asp21117= | |
| ENST00000460472.6:c.62976T>C (TTN) | ENSP00000434586.1:p.Asp20992= | |
| ENST00000589042.5:c.90171T>C (TTN) MANE Select | ENSP00000467141.1:p.Asp30057= | |
| ENST00000591111.5:c.85248T>C (TTN) | ENSP00000465570.1:p.Asp28416= | |
| ENST00000615779.4:c.85248T>C (TTN) | ENSP00000483597.1:p.Asp28416= | |
| NM_001256850.1:c.85248T>C (TTN) | NP_001243779.1:p.Asp28416= | |
| NM_001267550.2:c.90171T>C (TTN) MANE Select | NP_001254479.2:p.Asp30057= | |
| NM_003319.4:c.62976T>C (TTN) | NP_003310.4:p.Asp20992= | |
| NM_133378.4:c.82467T>C (TTN) | NP_596869.4:p.Asp27489= | |
| NM_133432.3:c.63351T>C (TTN) | NP_597676.3:p.Asp21117= | |
| NM_133437.4:c.63552T>C (TTN) | NP_597681.4:p.Asp21184= | |
| NR_038271.1:n.447-18571A>G (TTN-AS1) | ||
| NR_038272.1:n.2043+10368A>G (TTN-AS1) | ||
| XM_011511729.1:c.89268T>C (TTN) | XP_011510031.1:p.Asp29756= | |
| XM_011511730.1:c.63162T>C (TTN) | XP_011510032.1:p.Asp21054= | |
| XM_011511731.1:c.63021T>C (TTN) | XP_011510033.1:p.Asp21007= | |
| XM_017004819.1:c.89064T>C (TTN) | XP_016860308.1:p.Asp29688= | |
| XM_017004820.1:c.84462T>C (TTN) | XP_016860309.1:p.Asp28154= | |
| XM_017004821.1:c.84459T>C (TTN) | XP_016860310.1:p.Asp28153= | |
| XM_017004822.1:c.81501T>C (TTN) | XP_016860311.1:p.Asp27167= | |
| XM_017004823.1:c.63117T>C (TTN) | XP_016860312.1:p.Asp21039= | |
| XM_024453094.1:c.84612T>C (TTN) | XP_024308862.1:p.Asp28204= | |
| XM_024453095.1:c.84609T>C (TTN) | XP_024308863.1:p.Asp28203= | |
| XM_024453096.1:c.84042T>C (TTN) | XP_024308864.1:p.Asp28014= | |
| XM_024453097.1:c.81384T>C (TTN) | XP_024308865.1:p.Asp27128= | |
| XM_024453098.1:c.81303T>C (TTN) | XP_024308866.1:p.Asp27101= | |
| XM_024453099.1:c.63066T>C (TTN) | XP_024308867.1:p.Asp21022= | |
| XM_024453100.1:c.52920T>C (TTN) | XP_024308868.1:p.Asp17640= |